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rs587779544

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779544(A;A)
Make rs587779544(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993452
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779544
ebirs587779544
HLIrs587779544
Exacrs587779544
Varsomers587779544
Maprs587779544
PheGenIrs587779544
hapmaprs587779544
1000 genomesrs587779544
hgdprs587779544
ensemblrs587779544
gopubmedrs587779544
geneviewrs587779544
scholarrs587779544
googlers587779544
pharmgkbrs587779544
gwascentralrs587779544
openSNPrs587779544
23andMers587779544
23andMe allrs587779544
SNP Nexus

SNPshotrs587779544
SNPdbers587779544
MSV3drs587779544
GWAS Ctlgrs587779544
Max Magnitude0
ClinVar
Risk rs587779544(A;A)
Alt rs587779544(A;A)
Reference rs587779544(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189858178G>A
CLNSRC
CLNACC RCV000087485.1,